Tafazzin/TAZ Products

Description

Tafazzin / TAZ encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternative transcripts encoding additional isoforms have been described but the full-length nature of these transcripts is not known.

Bioinformatics

Entrez	363521 Rat 66826 Mouse 6901 Human
Uniprot	AAH11515 Human NM_000116 Human NP_000107.1 Human
Product By Gene ID	6901
Alternate Names	BTHSEFE cardiomyopathy, dilated 3A (X-linked) CMD3A EFE2FLJ27390 G4.5endocardial fibroelastosis 2 LVNCX Protein G4.5 tafazzin Taz1 XAP-2

Research Areas for Tafazzin/TAZ

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Transcription Factors and Regulators